Canonical Allele Identifier: CA407183710

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs1197078434
• MyVariant Identifiers: chr19:g.52716009T>A (hg19) ; chr19:g.52212756T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212756T>A , CM000681.2:g.52212756T>A	GRCh38
NC_000019.9:g.52716009T>A , CM000681.1:g.52716009T>A	GRCh37
NC_000019.8:g.57407821T>A	NCBI36
NG_047068.1:g.27955T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.694T>A	ENSP00000391905.3:p.Phe232Ile
ENST00000703395.1:c.37T>A	ENSP00000515286.1:p.Phe13Ile
ENST00000703396.1:n.518T>A
ENST00000703397.1:c.37T>A	ENSP00000515287.1:p.Phe13Ile
ENST00000703398.1:c.616T>A	ENSP00000515288.1:p.Phe206Ile
ENST00000703421.1:n.727T>A
ENST00000703422.1:c.550T>A	ENSP00000515292.1:p.Phe184Ile
ENST00000703423.1:c.37T>A	ENSP00000515293.1:p.Phe13Ile
ENST00000322088.11:c.574T>A MANE Select	ENSP00000324804.6:p.Phe192Ile
ENST00000322088.10:c.574T>A	ENSP00000324804.6:p.Phe192Ile
ENST00000454220.6:c.694T>A	ENSP00000391905.2:p.Phe232Ile
ENST00000462047.1:n.265T>A
ENST00000462990.5:c.37T>A	ENSP00000470504.1:p.Phe13Ile
NM_014225.5:c.574T>A	NP_055040.2:p.Phe192Ile
NR_033500.1:n.768T>A
NM_001363656.1:c.37T>A	NP_001350585.1:p.Phe13Ile
NM_014225.6:c.574T>A MANE Select	NP_055040.2:p.Phe192Ile
NM_001363656.2:c.37T>A	NP_001350585.1:p.Phe13Ile
NR_033500.2:n.518T>A